Next-Generation Sequencing (NGS) technologies have revolutionized
genomics by dramatically expanding our capacity to explore and understand the
genome. This chapter provides a comprehensive examination of NGS, encompassing
its foundational principles, diverse applications, and current challenges. The discussion
begins with an introduction to NGS, highlighting its core characteristics and its role in
enabling high-throughput sequencing. Key NGS platforms—including Illumina, Pacific
Biosciences, and Oxford Nanopore technologies—are explored in detail, illustrating
their unique contributions to the field. Beyond technical aspects, this chapter also
examines the far-reaching implications of NGS across multiple disciplines, from
clinical diagnostics and personalized medicine to agriculture and evolutionary biology.
By enabling unprecedented insights into the human genome, NGS has paved the way
for targeted therapies and precision healthcare solutions. However, these advancements
come with significant challenges, particularly in data analysis and interpretation. The
chapter addresses the complexities of NGS bioinformatics, emphasizing the tools and
methodologies required to process and derive meaningful insights from vast genomic
datasets. Finally, the transformative role of artificial intelligence and machine learning
in enhancing NGS data analysis is discussed, underscoring their potential to further
refine genomic research and applications.
Keywords: Bioinformatics, Genomics, NGS, Next-generation sequencing, Oxford nanopore sequencing.
